Woman's mysterious disease to be featured on Discovery Health Channel

Mysterious symptons plagued Maynard resident Jenifer Gershman for months before a doctor finally pinned down the answer. Now, her case is being featured on a Discovery Health program in April.

Patrick Ball

At a glance, Jenifer Gershman is a typical suburban dweller: She lives in Maynard with her husband of 10 years, Steve. Trips to the Thoreau Club in Concord are a daily detour on her way home from dropping off her son Jason, who is nearly 5, at his preschool in Acton. She enjoys playing mahjong.

Looks, of course, can be deceiving, and Gershman is anything but typical. In September 2006, she began to suffer a series of maladies, from abnormal water retention, swollen legs, high cholesterol and protein in her blood. It took months, but the doctors finally found the answer: Primary Amyloidosis, a potentially deadly bone marrow disorder caused by faulty plasma cells. Treatment required high-dose chemotherapy and a stem cell transplant. They were performed in June 2007.

“It was really a scary diagnosis,” said Gershman, who is 39. “I was thinking: ‘I have a four-year-old at home. I don’t have time for this.’”

And that’s where her family and friends came in.

Because high-dosage chemo would render her unable to fend off infection, the family’s Maynard residence was considered too far from the hospital and the Gershmans had to rent an apartment in Back Bay. So, her parents pitched in financially and Steve’s mother flew up from Florida to watch Jason, who is now nearly 5, and bring him to the Thoreau Club. Gershman’s girlfriends attended to miscellaneous details and accompanied her to the city for the three required stem cell collections.

“You cannot get through this without that support,” Gershman said. “My friends cooked. My friends planned play dates. The fact that they took on that job; not just the cooking but also the ‘We’ll take care of it.’ People took care of Jason as if he were their own.”

Sharing her story

On April 7, Gershman will share her story with a wider audience when the Discovery Health Channel airs her case on the program “Mystery Diagnosis.”

“It’s important for me to share my story. Even if only one person says, ‘That sounds like my grandmother,’” she said. “You have to be proactive about your health. If you know something is wrong with you, do not stop until you get an answer. If I had not pursued this, I would not be in good shape.”

Only 3,000 to 4,000 Americans are diagnosed with amyloidoses each year, according to Dr. David Seldin, director of the Amyloid Treatment and Research Center at the Boston University School of Medicine. Another couple thousand cases likely are undiagnosed each year because the only way to detect the disease — staining with Congo red dye — is rare unless amyloidosis is suspected, Seldin said.

“It can definitely be fatal in untreated cases; the median survival is only a year or a year-and-a-half,” Seldin said of the disease capable of causing organ failure.

Amyloidosis refers to a group of diseases characterized by insoluble proteins attaching to organs and tissue. They are difficult to detect because symptoms are typical to other diseases, and they can be diagnosed only with a positive biopsy the administering doctor properly stains with Congo red dye.

Primary Amyloidosis is the most common type of amyloidosis in the United States, but Secondary Amyloidosis and Hereditary Amyloidosis also occur. Additionally, there are many localized amyloidoses, of which Alzheimer’s disease is the best known.

There is no way to guard against amyloidoses, according to Seldin.

“It’s a sporadic disease that really comes out of the blue,” he said.

Self-diagnostic

Case in point is Gershman, a former personal trainer who ate right and exercised often, but was plagued for months by mysterious maladies.

“I’m a young, healthy person. I am of normal weight. My feet don’t normally have indents,” she said. “That’s when I started Googling. It made my husband crazy because I thought I had everything.”

Her self-assessments, although informed by a search engine, were hardly hypochondriac. In January 2007, a 24-hour urine test showing protein indicated a kidney problem. In February, Gershman made the appointment for a kidney biopsy at Emerson Hospital that finally provided the results.

Gershman remembers gathering the weekend before her first treatment with her husband, her sister, her friend and her hairstylist to cut off her hair, probably doomed by chemotherapy, for Locks of Love.

“I rocker-chicked it,” she said of her hair. “It was scary to think about, but when it happened it was nothing.”

Last summer, she told Jason she didn’t have her superpowers as a way to explain her recovery from the chemotherapy and stem cell transplant she had in June, which eradicated her immune system and sent the disease into remission.

Gershman was back at Thoreau Club by Fourth of July weekend. Afraid to work out alone and unsure about where to start, she hired a personal trainer with a background in physical therapy.

“I didn’t need to be skinny, I needed to be healthy,” said Gershman, who now views exercise and diet in the same vein as prescription medication. “I plan on being around for a long time for my son. I have a bar mitzvah to plan.”

Gershman said she was informed that she would have to do the treatment again this June, after a bone marrow biopsy this past January found barely detectable traces of the disease.

“I’m kind of annoyed by it,” she said. “I feel so good and so healthy, I don’t want to go through it again. It’s going to ruin my summer.”

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